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255399007: Congenital (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal deletion of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 1 Occurrence False Congenital Inferred relationship Some 3
Proximal deletion of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of chromosome 14 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of chromosome 15 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 8 Occurrence True Congenital Inferred relationship Some 2
Proximal duplication of chromosome 13 Occurrence True Congenital Inferred relationship Some 1
Proximal duplication of long arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of long arm of chromosome 11 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 Occurrence True Congenital Inferred relationship Some 2
Bilateral sclerocornea Occurrence True Congenital Inferred relationship Some 1
Bilateral sclerocornea Occurrence True Congenital Inferred relationship Some 2
Rothmund Thomson syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Rothmund Thomson syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Secondary congenital hyperplasia of lung Occurrence True Congenital Inferred relationship Some 1
Sabinas brittle hair syndrome Occurrence True Congenital Inferred relationship Some 1
Sabinas brittle hair syndrome Occurrence True Congenital Inferred relationship Some 2
Pfeiffer syndrome type 3 Occurrence True Congenital Inferred relationship Some 1
Pfeiffer syndrome type 3 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 6 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of short arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 2
Proximal deletion of short arm of chromosome 1 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 1 Occurrence False Congenital Inferred relationship Some 3
Proximal deletion of short arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 3 Occurrence True Congenital Inferred relationship Some 3
Proximal deletion of short arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 Occurrence True Congenital Inferred relationship Some 2
Rhizomelic chondrodysplasia punctata type 2 Occurrence True Congenital Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata type 2 Occurrence True Congenital Inferred relationship Some 2
Rhizomelic chondrodysplasia punctata type 3 Occurrence True Congenital Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata type 3 Occurrence True Congenital Inferred relationship Some 2
Pyruvate dehydrogenase complex E1 beta subunit deficiency Occurrence True Congenital Inferred relationship Some 1
Pyruvate dehydrogenase complex E2 subunit deficiency Occurrence True Congenital Inferred relationship Some 1
Pyruvate dehydrogenase complex E1-alpha subunit deficiency Occurrence True Congenital Inferred relationship Some 1
Pyruvate dehydrogenase phosphatase deficiency Occurrence True Congenital Inferred relationship Some 1
Remnant of vitelline vein Occurrence True Congenital Inferred relationship Some 1
Renal tubular dysgenesis due to drug Occurrence True Congenital Inferred relationship Some 1
Remnant of vitelline artery Occurrence False Congenital Inferred relationship Some 1
Proximal deletion of short arm of chromosome 7 Occurrence True Congenital Inferred relationship Some 1
Developmental dysplasia of left hip Occurrence True Congenital Inferred relationship Some 1
Developmental dysplasia of right hip Occurrence True Congenital Inferred relationship Some 1
Congenital subluxation of left hip joint Occurrence True Congenital Inferred relationship Some 1
Congenital subluxation of right hip joint Occurrence True Congenital Inferred relationship Some 1
Ring chromosome Occurrence True Congenital Inferred relationship Some 1
Ring chromosome 1 syndrome Occurrence False Congenital Inferred relationship Some 2
Ring chromosome 14 syndrome Occurrence True Congenital Inferred relationship Some 1
Agenesis of right hemisphere of cerebellum Occurrence True Congenital Inferred relationship Some 1
Agenesis of left hemisphere of cerebellum Occurrence True Congenital Inferred relationship Some 1
Bilateral dysplastic hip Occurrence True Congenital Inferred relationship Some 2
Anomaly of umbilical vein group III Occurrence True Congenital Inferred relationship Some 1
Anomaly of umbilical vein group IV Occurrence True Congenital Inferred relationship Some 1
Sternopagus Occurrence True Congenital Inferred relationship Some 1
Sternopagus Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 1 Occurrence True Congenital Inferred relationship Some 4
Oculo-auriculo-vertebral spectrum Occurrence True Congenital Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Occurrence True Congenital Inferred relationship Some 2
Subcortical nodular heterotopia Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 2 Occurrence True Congenital Inferred relationship Some 4
Helical ulceration of umbilical cord Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 4 Occurrence True Congenital Inferred relationship Some 1
Stickler syndrome type 4 Occurrence True Congenital Inferred relationship Some 2
Stickler syndrome type 4 Occurrence True Congenital Inferred relationship Some 3
Stickler syndrome type 4 Occurrence True Congenital Inferred relationship Some 4
Bilateral secondary hypoplasia of lung Occurrence True Congenital Inferred relationship Some 1
Bilateral secondary hypoplasia of lung Occurrence True Congenital Inferred relationship Some 2
Single umbilical cord artery type II Occurrence True Congenital Inferred relationship Some 1
Single umbilical cord artery type I Occurrence True Congenital Inferred relationship Some 1
Segmental neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Some 1
Segmental neurofibromatosis type 1 Occurrence True Congenital Inferred relationship Some 2
Syndactyly of fingers of bilateral hands Occurrence True Congenital Inferred relationship Some 1
Syndactyly of fingers of bilateral hands Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 5p mosaicism Occurrence True Congenital Inferred relationship Some 1
Tetrasomy 5p mosaicism Occurrence True Congenital Inferred relationship Some 2
Tetrasomy 15q Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of bilateral fibulae Occurrence True Congenital Inferred relationship Some 1
Longitudinal deficiency of bilateral fibulae Occurrence True Congenital Inferred relationship Some 2
Anomaly of umbilical vein group I Occurrence True Congenital Inferred relationship Some 1
Waardenburg syndrome type 3 Occurrence False Congenital Inferred relationship Some 1
Waardenburg syndrome type 3 Occurrence False Congenital Inferred relationship Some 2
Anomaly of umbilical vein group II Occurrence True Congenital Inferred relationship Some 1
Oculo-auriculo-vertebral spectrum Occurrence True Congenital Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 1
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 2
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 4
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 5
Thoracolumbosacral spina bifida aperta Occurrence True Congenital Inferred relationship Some 6

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Reference Sets

Qualifier value foundation reference set

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